Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Polyphagia |
OMIM:620195 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Cafe-au-lait spot |
ORPHA:436151 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Athetosis, Hypopigmentation of the skin |
OMIM:257800 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia |
OMIM:222100 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Small nail, Abnormal repetitive mannerisms |
OMIM:619470 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Frontal upsweep of hair, Aggressive behavior |
OMIM:300983 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Hyperactivity, Aggressive behavior, Self-injurious behavior, Long eyelashes, T... |
OMIM:618362 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Premature graying of hair, Hypop... |
ORPHA:33445 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Polyphagia, Hypoglycemic seizures, Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Polyphagia, Hypoglycemic seizures, Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Blue irides, Compulsive behaviors, Attention deficit hyperact... |
OMIM:261600 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Onychauxis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoaci... |
OMIM:262190 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Polyphagia, Inappropriate laughter, Hypopigmentation of ... |
ORPHA:411515 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria |
OMIM:618857 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Diabetes mellitus, Tremor, Premature graying of hair, Type II diabetes ... |
ORPHA:100 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Blue irides, Red hair, Fair hair |
OMIM:614613 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... |
OMIM:618718 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Synophrys, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Tremor, Self-injurious behavior, Attention deficit hyperactivity disord... |
ORPHA:79254 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iris hypopigmentation |
ORPHA:177910 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior |
ORPHA:3077 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hyperactivity, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... |
ORPHA:98794 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Fg Syndrome 3 |
|
Sparse hair, Hyperactivity, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Dys... |
ORPHA:411511 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Polyphagia, Hypoglycemic seizures |
OMIM:609734 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Generalized dystonia, Dysphagia |
ORPHA:70472 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... |
ORPHA:552 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Aggressive behavior, Self-injurious behavior, Abnormal temper t... |
ORPHA:449291 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Familial Renal Glucosuria |
|
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Tongue thrusting, Dysphagia, Hypopigmentation of the skin, Iris hypopig... |
ORPHA:98795 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:2298 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... |
ORPHA:98793 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... |
ORPHA:177901 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... |
ORPHA:98754 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Polyphagia, Type II diabetes mellitus, Abnormal temper tantrums, Skin-p... |
ORPHA:398079 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hyperinsulinemia, Polyphagia, Self-injurious behavior, Frontal upsweep ... |
OMIM:176270 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Impulsivity, Polyphagia, Type II diabetes mellitus, Abnormal temper tan... |
ORPHA:398069 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Tremor, Silver-gray hair, Ocular albinism, Giant melanosomes in melanoc... |
OMIM:214500 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Abnormal repetitive mannerisms, Head-banging, Attention deficit hyperac... |
ORPHA:177907 |
Koolen-De Vries Syndrome |
|
Overfriendliness, Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Diabetes mellitus, Polyphagia, Attention deficit hyperactivity disorder... |
ORPHA:739 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevus, Long ey... |
ORPHA:79430 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Athetosis, Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation |
ORPHA:2719 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... |
ORPHA:84064 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Tremor, Large clumps of pigment ir... |
ORPHA:167 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Diabetes mellitus, Oral-pharyngeal dysphagia, Retinal pigment epithelia... |
OMIM:219800 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair, Hypoglycemia |
ORPHA:565 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Dysphagia, Hypopigmentation of the skin |
OMIM:242840 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Abnormal eyelas... |
OMIM:619488 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal eyelash morphology, Self-injurious behavior, Hypopigmentation of hair, Attention deficit... |
ORPHA:818 |